Application of liquid biopsy as multi-functional biomarkers in head and neck cancer

Head and neck cancer (HNC) is the sixth leading cause of cancer death worldwide. Due to the low early diagnosis rate of HNC, local recurrence and high distant metastasis rate are the main reasons for treatment failure. Therefore, it is important to establish a method of diagnosis and monitoring, which is convenient, safe, reproducible, sensitive and specific. Compared with tissue biopsy, liquid biopsy is an emerging biopsy technique, which has the advantages of re-sampling, noninvasive and cost-effectiveness, and has shown good diagnostic and prognostic value in studies for various types of malignant solid tumors. This review introduces liquid biopsy, its research progress and prospects in HNC including early diagnosis, staging, grading, prognosis assessment and disease surveillance.

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Comparison of circulating tumor cells and cell-free DNA in the molecular characterization of patients with head and neck cancer.

Journal of Clinical Oncology ◽

10.1200/jco.2020.38.15_suppl.e18521 ◽

2020 ◽

Vol 38 (15_suppl) ◽

pp. e18521-e18521

Author(s):

Santiago Cabezas-Camarero ◽

Vanesa García-Barberán ◽

Virginia De la Orden-García ◽

Beatriz Mediero-Valeros ◽

Isabel Díaz-Millán ◽

...

Keyword(s):

Head And Neck Cancer ◽

Parotid Gland ◽

Head And Neck ◽

Molecular Characterization ◽

Neck Cancer ◽

Liquid Biopsy ◽

Digital Pcr ◽

Cell Free Dna ◽

Free Dna

e18521 Background: The role of liquid biopsy in diagnosis and therapy monitoring in patients with head and neck cancer has been much less studied compared to other cancers. Our aim was to evaluate the perfomance in the isolation and recovery for molecular characterization of circulating tumour cells (CTC) of a new immunoafinity-based method and to compare it with the molecular diagnostic yield of plasma cell-free DNA. Methods: Patients with recurrent/metastatic (RM) head and neck cancer (HNC) were enrolled prospectively. Forty mililiters (ml) of plasma were collected at one or several time-points. First blood draw was always collected before starting a new therapeutic intervention or at the time of radiologic progression. For CTC detection and isolation, either anti-EpCAM or both anti-EpCAM + anti-EGFR antibodies were used. Digital PCR and castPCR were used to study KRAS and PI3KCA mutations in non-squamous HNC. A 15-gene customized NGS panel was used to characterized both CTC and cfDNA in patients with squamous HNC. Results: Between February 2016 and October 2018, 14 patients with R/M HNC were included (n = 1 local-only disease, n = 10 local and distant disease, n = 3 distant-only disease). Squamous histology (S): n = 9. Non-squamous (NS): n = 5 (1 naso-ethmoidal intestinal-type adenocarcinoma, 1 parotid gland exadenoma pleomorfic carcinoma, 2 parotid-gland salivary duct carcinomas (SDC), 1 parotid-gland high-grade neuroendocrine carcinoma). Twenty-five CTC determinations were performed. In 5 patients serial CTC determinations were performed. Median CTC was 4 (min-max: 0-49). Median CTC among 11 CTC determinations in S-HNC was 4 (min-max: 0-49). Median CTC was 3 CTC (min-max: 0-26) among the 14 determinations performed in NS-HNC. Digital PCR unveiled mutations in CTC and in cfDNA in 2 of 4 patients tested with NS histology (KRAS, PIK3CA), with one of them being concordant for the specific mutation. NGS unveiled mutations in CTC in 7/9 patients and in cfDNA in 6/9 patients, with only one loci-concordant case between CTC and plasma. Conclusions: IsoFlux detected CTC in the majority of patients with R/M HNC, regardless of the histologic type, and allowed for molecular characterization of CTC using different techniques for mutational analysis. Both NGS and digital PCR allowed for the detection in cell-free DNA of commonly mutated genes in HNC. Liquid biopsy should be more actively studied in this disease in order to better define its role in diagnosis and therapeutic monitoring.

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Liquid Biopsy: A Future Tool for Posttreatment Surveillance in Head and Neck Cancer?

Pathobiology ◽

10.1159/000452861 ◽

2016 ◽

Vol 84 (3) ◽

pp. 115-120 ◽

Cited By ~ 14

Author(s):

Joost H. van Ginkel ◽

Manon M.H. Huibers ◽

Rob Noorlag ◽

Remco de Bree ◽

Robert J.J. van Es ◽

...

Keyword(s):

Head And Neck Cancer ◽

Head And Neck ◽

Neck Cancer ◽

Liquid Biopsy

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Liquid Biopsy in Head and Neck Cancer

Case Medical Research ◽

10.31525/ct1-nct03926468 ◽

2019 ◽

Author(s):

Keyword(s):

Head And Neck Cancer ◽

Head And Neck ◽

Neck Cancer ◽

Liquid Biopsy

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Abstract 5230: Circulating tumor DNA as a ‘liquid biopsy’ in head and neck cancer

10.1158/1538-7445.am2015-5230 ◽

2015 ◽

Author(s):

Sandra Perdomo ◽

Devasena Anantharaman ◽

James Mckay ◽

Paul Brennan

Keyword(s):

Head And Neck Cancer ◽

Head And Neck ◽

Neck Cancer ◽

Liquid Biopsy ◽

Circulating Tumor Dna ◽

Tumor Dna

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Liquid Biopsies in Head and Neck Cancer: Current State and Future Challenges

Cancers ◽

10.3390/cancers13081874 ◽

2021 ◽

Vol 13 (8) ◽

pp. 1874

Author(s):

Lingyi Kong ◽

Andrew C. Birkeland

Keyword(s):

Head And Neck Cancer ◽

Head And Neck ◽

Neck Cancer ◽

Liquid Biopsy ◽

Technological Development ◽

Circulating Tumor Dna ◽

Liquid Biopsies ◽

Disease States ◽

Diagnosis And Prognosis ◽

Current State

Head and neck cancers are the seventh most frequent malignancy worldwide, consisting of a heterogeneous group of cancers that develop in the oral cavity, pharynx, and larynx, with head and neck squamous cell carcinoma (HNSCC) being the most common pathology. Due to limitations with screening and physical examination, HNSCC often presents in advanced disease states and is thus associated with poor survival. In this setting, liquid biopsies, or obtaining patient bodily fluid samples for cancer diagnosis and prognosis, may play a dramatic role in optimizing care for HNSCC patients. In recent years, there have been dramatic advancements in investigations focused on optimizing and implementing liquid biopsies in general, and specifically for HNSCC patients. Moving forward, there remain significant challenges in liquid biopsy technological development, as well as opportunities for the development of HNSCC liquid biopsy clinical trials and treatment paradigms. In this review, we discuss the current state of liquid biopsy technologies via circulating tumor cells, circulating tumor DNA and exosomes, approaches in head and neck cancer, challenges to optimization and application of liquid biopsies for clinical study, and future prospects for this field of research as it applies to head and neck cancer.

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